Mutagenetix > Incidental Mutation

Incidental Mutation 'R4653:Sv2a'

381234

Institutional Source

Beutler Lab

Gene Symbol

Sv2a

Ensembl Gene

ENSMUSG00000038486

Gene Name

synaptic vesicle glycoprotein 2a

Synonyms

MMRRC Submission

041913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4653 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96088543-96102499 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 96098078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035371]

AlphaFold

Q9JIS5

Predicted Effect

probably null
Transcript: ENSMUST00000035371

SMART Domains

Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	123	138	N/A	INTRINSIC
Pfam:Sugar_tr	149	484	5.3e-30	PFAM
Pfam:MFS_1	168	483	1.6e-24	PFAM
Pfam:Pentapeptide_4	513	585	7.7e-11	PFAM
Pfam:MFS_1	561	739	3.9e-12	PFAM
Pfam:Sugar_tr	588	742	4.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196912

Meta Mutation Damage Score

0.9585

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit seizures, retarded growth, and reduced hippocampal (GABA)ergic neurotransmission. Many mutants die shortly after birth, and all are dead by three weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,264 (GRCm39)	T351A	probably benign	Het
3930402G23Rik	A	T	8: 10,976,075 (GRCm39)		noncoding transcript	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,932,230 (GRCm39)	E295*	probably null	Het
Abi3	T	C	11: 95,723,637 (GRCm39)	I215V	probably benign	Het
Adhfe1	G	T	1: 9,620,803 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,495,156 (GRCm39)		probably benign	Het
Ank	T	A	15: 27,590,447 (GRCm39)	W344R	probably null	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Ccdc39	A	G	3: 33,873,955 (GRCm39)		probably null	Het
Cd180	T	A	13: 102,841,416 (GRCm39)	L154H	probably damaging	Het
Cnp	A	T	11: 100,467,342 (GRCm39)	D95V	probably benign	Het
Cul1	T	C	6: 47,461,897 (GRCm39)	I20T	probably damaging	Het
Dnah6	T	C	6: 73,050,440 (GRCm39)	K3042R	possibly damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dpys	C	A	15: 39,656,642 (GRCm39)	R475L	probably damaging	Het
Dync1i2	A	G	2: 71,078,199 (GRCm39)	N276S	probably damaging	Het
Ext2	T	C	2: 93,526,504 (GRCm39)	S711G	probably benign	Het
Fancm	A	G	12: 65,129,828 (GRCm39)	Y223C	probably damaging	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Garin5b	T	C	7: 4,761,054 (GRCm39)	R553G	possibly damaging	Het
Gcat	T	C	15: 78,919,487 (GRCm39)	S151P	probably damaging	Het
Gcm2	A	T	13: 41,256,317 (GRCm39)	D477E	probably benign	Het
Git1	A	G	11: 77,395,869 (GRCm39)	N468S	possibly damaging	Het
Gtf3c1	T	C	7: 125,273,272 (GRCm39)	I622V	probably benign	Het
Hsd17b13	G	A	5: 104,113,702 (GRCm39)	L251F	probably damaging	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Ly9	G	T	1: 171,421,597 (GRCm39)	H441Q	probably benign	Het
Mtcl2	A	G	2: 156,882,511 (GRCm39)	F514L	probably damaging	Het
Myo15b	G	A	11: 115,770,813 (GRCm39)		probably null	Het
Nomo1	G	T	7: 45,711,237 (GRCm39)	A639S	probably benign	Het
P3h2	T	C	16: 25,924,027 (GRCm39)	D136G	probably damaging	Het
Pde4dip	A	T	3: 97,674,654 (GRCm39)	D87E	probably damaging	Het
Pdpk1	A	T	17: 24,325,871 (GRCm39)	D108E	probably benign	Het
Pex26	C	T	6: 121,167,084 (GRCm39)	S231L	probably damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Ryr3	T	A	2: 112,483,108 (GRCm39)	N4213I	probably damaging	Het
Slc7a14	A	G	3: 31,311,831 (GRCm39)	V63A	probably damaging	Het
Sppl2a	C	T	2: 126,762,233 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,455,580 (GRCm39)	W3077R	probably damaging	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Themis2	A	G	4: 132,510,287 (GRCm39)	S638P	probably benign	Het
Trabd	A	G	15: 88,970,042 (GRCm39)	Y346C	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trmt1l	G	A	1: 151,315,320 (GRCm39)	V16I	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Usp13	A	T	3: 32,892,073 (GRCm39)	Q84L	probably damaging	Het
Vmn1r172	G	T	7: 23,359,997 (GRCm39)	G294V	probably damaging	Het
Vmn2r59	A	T	7: 41,693,228 (GRCm39)	H457Q	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vps8	T	C	16: 21,318,960 (GRCm39)	Y602H	probably damaging	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het

Other mutations in Sv2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Sv2a	APN	3	96,100,600 (GRCm39)	missense	probably benign	0.00
IGL01081:Sv2a	APN	3	96,097,012 (GRCm39)	missense	probably benign	0.35
IGL01786:Sv2a	APN	3	96,095,525 (GRCm39)	missense	probably benign	0.08
IGL02220:Sv2a	APN	3	96,098,032 (GRCm39)	missense	probably benign	0.13
IGL02701:Sv2a	APN	3	96,094,447 (GRCm39)	missense	probably damaging	0.99
IGL02740:Sv2a	APN	3	96,092,723 (GRCm39)	missense	possibly damaging	0.92
IGL03067:Sv2a	APN	3	96,092,498 (GRCm39)	missense	probably damaging	1.00
R0760:Sv2a	UTSW	3	96,095,498 (GRCm39)	missense	probably damaging	1.00
R2070:Sv2a	UTSW	3	96,101,191 (GRCm39)	missense	possibly damaging	0.95
R2071:Sv2a	UTSW	3	96,101,191 (GRCm39)	missense	possibly damaging	0.95
R2902:Sv2a	UTSW	3	96,101,072 (GRCm39)	missense	possibly damaging	0.84
R3014:Sv2a	UTSW	3	96,096,751 (GRCm39)	nonsense	probably null
R3153:Sv2a	UTSW	3	96,092,574 (GRCm39)	missense	possibly damaging	0.75
R4472:Sv2a	UTSW	3	96,099,810 (GRCm39)	missense	probably benign	0.36
R4791:Sv2a	UTSW	3	96,099,874 (GRCm39)	missense	possibly damaging	0.68
R4844:Sv2a	UTSW	3	96,095,695 (GRCm39)	missense	probably damaging	1.00
R4919:Sv2a	UTSW	3	96,098,071 (GRCm39)	missense	probably benign	0.44
R5230:Sv2a	UTSW	3	96,092,776 (GRCm39)	missense	probably damaging	1.00
R5305:Sv2a	UTSW	3	96,092,774 (GRCm39)	missense	possibly damaging	0.83
R5656:Sv2a	UTSW	3	96,092,888 (GRCm39)	missense	probably damaging	1.00
R5659:Sv2a	UTSW	3	96,097,619 (GRCm39)	missense	possibly damaging	0.96
R5722:Sv2a	UTSW	3	96,092,339 (GRCm39)	missense	probably benign	0.01
R6299:Sv2a	UTSW	3	96,095,565 (GRCm39)	critical splice donor site	probably null
R6315:Sv2a	UTSW	3	96,095,502 (GRCm39)	missense	probably benign	0.06
R7192:Sv2a	UTSW	3	96,101,062 (GRCm39)	missense	probably damaging	1.00
R7374:Sv2a	UTSW	3	96,095,525 (GRCm39)	missense	probably benign	0.08
R7691:Sv2a	UTSW	3	96,095,727 (GRCm39)	missense	probably benign	0.00
R8795:Sv2a	UTSW	3	96,094,396 (GRCm39)	missense	probably benign	0.00
R9009:Sv2a	UTSW	3	96,094,409 (GRCm39)	missense	probably benign	0.05
R9143:Sv2a	UTSW	3	96,097,983 (GRCm39)	missense	possibly damaging	0.83
R9149:Sv2a	UTSW	3	96,097,010 (GRCm39)	missense	probably benign	0.02
R9335:Sv2a	UTSW	3	96,092,588 (GRCm39)	missense	probably damaging	1.00
R9349:Sv2a	UTSW	3	96,096,795 (GRCm39)	critical splice donor site	probably null
X0026:Sv2a	UTSW	3	96,096,768 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACCAGGGTTCTCTAGGGAC -3'
(R):5'- GGTAAAGGAACTCGAAGTTTTCC -3'

Sequencing Primer
(F):5'- CAGGGTTCTCTAGGGACGTGAG -3'
(R):5'- TTTCCTCAGAGAGTAGATCCCAGG -3'

Posted On

2016-04-21